Landscape analysis of m6A modification reveals the dysfunction of bone metabolism in osteoporosis mice by Lifeng Zheng, Chao Lan, Xinyue Gao, An Zhu, Yaoqing Chen, Jinluan Lin, Sunjie Yan, Ximei Shen

“…This study aimed to explore the relationship between OP and RNA m6A methylation, investigating its underlying mechanisms through comprehensive bioinformatic analysis and experimental validation. The mRNA sequencing (mRNA-seq) and methylated RNA immunoprecipitation sequencing (MeRIP-seq) were performed on control mice as well as ovariectomized mice to discover differentially expressed genes (DEGs) and m6A regulators in OP. …”
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Disproportionate Distribution of HBV Genotypes A and D and the Recombinant Genotype D/E in the High and Low HBV Endemic Regions of Uganda: A Wake-Up Call for Regional Specific HBV... by Hussein Mukasa Kafeero, Dorothy Ndagire, Ponsiano Ocama, Charles Drago Kato, Eddie Wampande, Henry Kajumbula, David Kateete, Abdul Walusansa, Ali Kudamba, Kigozi Edgar, Fred Ashaba Katabazi, Maria Magdalene Namaganda, Jamilu E. Ssenku, Hakim Sendagire

“…Purification of nested PCR products was performed using Purelink PCR product purification kit (Life Technologies, USA). Automated DNA sequencing was performed using BigDye Terminator v3.1 Cycle Sequencing Kit on 3130 Genetic Analyzer (Applied Biosystems, USA). …”
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Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol by Amali Mallawaarachchi, Hugh McCarthy, Thomas A. Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H. Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. J. Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett

“…These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids. …”
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Phenotypic and genotypic characterization of clinical carbapenem-resistant Acinetobacter species harboring the metallo-beta-lactamases IMP-8 or NDM-1 in China by Qingye Xu, Xinli Mu, Jintao He, Haiyang Liu, Xiaochen Liu, Yanfei Wang, Xiaoting Hua, Yunsong Yu

“…Through whole-genome sequencing and the southern blot analysis, we determined that blaIMP-8 was located on a pR4WN-type plasmid and blaNDM-1 was located on four distinct pSU1904NDM-type plasmids. …”
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Phase II trial of nab-paclitaxel plus ramucirumab in combination with nivolumab for unresectable advanced or recurrent gastric cancer after progression on first-line treatment incl... by Hidekazu Hirano, Naoki Takahashi, Yusuke Amanuma, Nobumi Suzuki, Daisuke Takahari, Takeshi Kawakami, Chie Kudo-Saito, Kengo Nagashima, Narikazu Boku, Ken Kato, Hirokazu Shoji

“…., flow cytometry, DNA sequencing [DNAseq]/RNA sequencing [RNAseq]). Recruitment started in November 2022. …”
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Circulating miRNA-486 as a novel diagnostic biomarker for right ventricular remodeling by Huiling Cai, Huiling Cai, Cheng Yu, Xiuchuan Li, Xuenan Wang, Xuenan Wang, Yongjian Yang, Yongjian Yang, Yongjian Yang, Cong Lan, Cong Lan

“…High-throughput miRNA sequencing of serum samples was performed to profile differentially-expressed miRNAs (dif-miRNAs) and preliminarily screen candidate miRNAs. …”
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De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome by Zhixin Jiang, Yinan Zhang, Jingbin Yan, Fengwen Li, Xinqian Geng, Huijuan Lu, Xiaoer Wei, Yanmei Feng, Congrong Wang, Weiping Jia

“…Clinical evaluations including endocrinological, audiological, and magnetic resonance imaging (MRI) examinations, mitochondrial function evaluation in peripheral blood mononuclear cells (PBMCs), and whole mitochondrial DNA (mtDNA) sequencing were performed among the spontaneous mutant pedigrees. …”
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Intravesical BCG in patients with non-muscle invasive bladder cancer induces trained immunity and decreases respiratory infections by J Alfred Witjes, Alina Vrieling, Mihai G Netea, Leo A B Joosten, Katja K H Aben, Sita H Vermeulen, Joost L Boormans, Antoine G van der Heijden, Boris Novakovic, Jelmer H van Puffelen, Liesbeth van Emst, Denise Kooper, Tahlita C M Zuiverloon, Ursula T H Oldenhof, Tessel E Galesloot, Lambertus A L M Kiemeney, Egbert Oosterwijk

“…An epigenomics approach combining chromatin immuno precipitation-sequencing and RNA-sequencing with in vitro trained immunity experiments identified enhanced inflammasome activity in BCG-treated individuals. …”
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Gene function revealed at the moment of stochastic gene silencing by Shreyan Gupta, James J. Cai

“…Abstract Gene expression is a dynamic and stochastic process characterized by transcriptional bursting followed by periods of silence. Single-cell RNA sequencing (scRNA-seq) is a powerful tool to measure transcriptional bursting and silencing at the individual cell level. …”
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On-Chip DNA Assembly via Dielectrophoresis by Xichuan Rui, Lin-Sheng Wu, Xin Zhao

“…Sequencing results validate the effective assembly of DNA fragments, approximately 500 base pairs in length, using our DEP device.…”
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Newly Diagnosed Colonic Adenocarcinoma: The Presenting Sign in a Young Woman with Undiagnosed Crohn’s Disease in the Absence of Primary Sclerosing Cholangitis and a Normal Microsat... by Brett Matthew Lowenthal, Ann M. Ponsford Tipps

“…Histopathology revealed a moderately differentiated adenocarcinoma extending through the muscularis propria with metastatic lymph nodes and intact mismatch repair proteins by immunohistochemical expression and gene sequencing. The nonneoplastic grossly uninvolved background mucosa showed marked crypt distortion, crypt abscesses, CD-like lymphoid hyperplasia, transmural inflammation, and reactive epithelial atypia. …”
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A Rare Case of Richter Transformation to Both Clonally Unrelated and Clonally Related Diffuse Large B-Cell Lymphoma in the Same Patient by Michelle D. Don, Carlos Casiano, Huan-You Wang, Mikhail Gorbounov, Wei Song, Edward D. Ball

“…Additionally, we retrospectively conducted next-generation sequencing studies of both RT’s and found different mutational landscapes, including more clinically aggressive mutations identified in the clonally related RT. …”
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Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia by Stephen E. Langabeer, Lisa Preston, Johanna Kelly, Matt Goodyer, Ezzat Elhassadi, Amjad Hayat

“…Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies. …”
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EXPLORING THE RHETORICAL STRUCTURES IN UNDERGRADUATE THESIS INTRODUCTIONS: A GENRE ANALYSIS by Muhammad Haris Mustaqim, Rizka Sylvia

“…Moreover, all writers demonstrated appropriate sequencing of moves and steps, aligning with the CARS framework. …”
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Intratumor heterogeneity in KRAS signaling shapes treatment resistance by Oleksi Petrenko, Varvara Kirillov, Stephen D'Amico, Nancy C. Reich

“…Integrated analysis of single-cell and bulk RNA sequencing data reveals that most tumors display a mixture of cells with vastly different degrees of KRAS dependency. …”
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Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene by Agnieszka Murawska, Kamil Możdżeń, Grzegorz Horosin, Edward Pędziwiatr, Joanna Makowska, Jakub Pośpiech, Konrad Kaleta, Dorota Drożdż, Katarzyna Zachwieja

“…Abnormal variants in this gene were found in the case of our patients – twin sisters diagnosed with BBS. Next-generation sequencing revealed variants in the TTC8 gene: c.-104G>A [NM_001288783, rs119103286] and c.635T>C [NM_144596], which are associated with BBS type 8. …”
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Expression of a splice variant of the platelet-activating factor receptor transcript 2 in various human cancer cell lines by Ibtissam Youlyouz, Emmanuelle Magnoux, Laurence Guglielmi, Yves Denizot

“…Platelet-activating factor receptor (PAF-R) transcripts were analysed by reverse transcriptase-polymerase chain reaction in five human cancer cell lines derived from the breast (BT20, SKBR3 and T47D cells), the pancreas (Miapaca cells) and the bladder (5637 cells) in order to confirm the existence of a splice variant of the PAF-R transcript 2. After cloning and sequencing, we confirmed its existence in all cell lines. …”
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A Report on a Family with TMTC3-Related Syndrome and Review by Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane

“…Here, we report a new case of a TMTC3-related syndrome in a Lebanese family with two affected siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211 C > T (p.R71C) in the TMTC3 gene in both siblings. …”
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Beta-HCG Secretion by a Pulmonary Choriocarcinoma in a Male Patient by Brecht Devos, Cedric Willemse, Mira Sterckx, Johan Debruyne, Inge Stappaerts, Tom Van den Mooter, Marjan Hertoghs, Pascale Abrams

“…Its biology, origin, and treatment remain to be elucidated. Cancer genome sequencing is necessary for the identification of the origin and seeking treatment.…”
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Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics by Emmanuelle Cacoub, Emmanuelle Cacoub, Nathalie Barreto Lefebvre, Dimitrije Milunov, Manish Sarkar, Soham Saha

“…The UN emphasizes improved access to primary care (diagnostic and potentially therapeutic) for these patients and their families. Next-generation sequencing (NGS) offers hope for earlier and more accurate diagnoses, potentially leading to preventative measures and targeted therapies. …”
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